Canonical Allele Identifier: CA1528403766

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708215G= , CM000667.2:g.13708215G=	GRCh38
NC_000005.9:g.13708324G= , CM000667.1:g.13708324G=	GRCh37
NC_000005.8:g.13761324G=	NCBI36
NG_013081.1:g.241266C=
NG_013081.2:g.241266C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.579C=
ENST00000265104.5:c.13246C= MANE Select	ENSP00000265104.4:p.Leu4416=
ENST00000681290.1:c.13201C=	ENSP00000505288.1:p.Leu4401=
ENST00000265104.4:c.13246C=	ENSP00000265104.4:p.Leu4416=
NM_001369.2:c.13246C=	NP_001360.1:p.Leu4416=
XM_005248262.2:c.13201C=	XP_005248319.1:p.Leu4401=
XM_005248262.3:c.13354C=	XP_005248319.2:p.Leu4452=
XM_017009177.1:c.12934C=	XP_016864666.1:p.Leu4312=
XM_017009178.1:c.12259C=	XP_016864667.1:p.Leu4087=
XM_017009179.2:c.12259C=	XP_016864668.1:p.Leu4087=
XM_017009185.1:c.8443C=	XP_016864674.1:p.Leu2815=
XM_017009186.1:c.7996C=	XP_016864675.1:p.Leu2666=
XM_017009188.1:c.7333C=	XP_016864677.1:p.Leu2445=
XM_024454388.1:c.12259C=	XP_024310156.1:p.Leu4087=
XM_024454389.1:c.11848C=	XP_024310157.1:p.Leu3950=
NM_001369.3:c.13246C= MANE Select	NP_001360.1:p.Leu4416=